Table 2 List of the main pathogenic missense variants and associated phenotypes (according to Snoeckx et al29)

From: EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

cDNA mutation

Protein

Clinical phenotype

c.1A>G

p.(Met1Val) (p.(Met1?)

 

c.95G>A

p.(Arg32His)

 

c.101T>C

p.(Met34Thr)

Mild

c.109G>A

p.(Val37Ile)

Mild

c.229T>C

p.(Trp77Arg)

Profound

c.246C>G

p.(Ile82Met)

 

c.269T>C

p.(Leu90P)

Mild–moderate

c.283G>A

p.(Val95Met)

Profound

c.427C>T

p.(Arg143Trp)

Profound

c.551G>C

p.(Arg184Pro)

Severe

c.617A>G

p.(Asn206Ser)

Mild

Back to article page